Major Defect of Carbohydrate-Deficient-Glycoprotein Syndrome is Not Found in the Synthesis of Dolichyl Phosphate or N-Acetylglucosaminyl-Pyrophosphoryl-Dolichol
| Autor: | Etsuko Yasugi, Mieko Oshima, Taeko Dohi, M. Nakasuji |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Glycosylation Biophysics Oligosaccharides Transferases (Other Substituted Phosphate Groups) Biology Biochemistry chemistry.chemical_compound Dolichol medicine Humans Transferase Fibroblast Molecular Biology Cells Cultured Glycoproteins Skin Dolichol Phosphates chemistry.chemical_classification Polyisoprenyl Phosphate Monosaccharides Syndrome Cell Biology Fibroblasts Carbohydrate Oligosaccharide In vitro Enzyme medicine.anatomical_structure chemistry Glycoprotein Carbohydrate Metabolism Inborn Errors |
| Zdroj: | Biochemical and Biophysical Research Communications. 200:816-820 |
| ISSN: | 0006-291X |
| DOI: | 10.1006/bbrc.1994.1524 |
| Popis: | The contents of dolichyl phosphate and UDP-N-acetylglucosamine:dolichyl phosphate N-acetylglucosamine 1-phosphate transferase (GlcNAc-1-P transferase) activity in fibroblasts from patients with carbohydrate-deficient-glycoprotein (CDG) syndrome were analyzed. The amount of dolichyl phosphate and GlcNAc-1-P transferase activity in CDG syndrome fibroblasts were similar to those in normal fibroblasts, suggesting that CDG syndrome may not be due to a deficiency of a biosynthetic enzyme for dolichol-oligosaccharide intermediates, but to a metabolic error in assembly of asparagine-linked oligosaccharide. |
| Databáze: | OpenAIRE |
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